Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
International Journal of Pediatric Endocrinology
Published in: International Journal of Pediatric Endocrinology 1/2011

Open Access 01-12-2011 | Review

Prader-Willi syndrome: A primer for clinicians

Authors: Mary Cataletto, Moris Angulo, Gila Hertz, Barbara Whitman

Published in: International Journal of Pediatric Endocrinology | Issue 1/2011

Login to get access

Abstract

The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances in hormone replacement therapy, particularly growth hormone children born in circumstances where therapy is available are expected to have an improved quality of life as compared to those born prior to growth hormone.
This manuscript was prepared as a primer for clinicians-to serve as a resource for those of you who care for children and adults with Prader-Willi syndrome on a daily basis in your practices. Appropriate and anticipatory interventions can make a difference.
Appendix
Available only for authorised users
Literature
1.
Prader A, Labhart A, Willi H: Ein syndrome von adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myotonierartigem zustand im neugeborenenalter. Schweiz Med Wochen. 1956, 86: 1260-1261.
2.
Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP: Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet. 2004, 12 (3): 238-240. 10.1038/sj.ejhg.5201135.PubMed
3.
Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H: Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health region. J Med Genet. 2001, 38 (11): 792-798. 10.1136/jmg.38.11.792.PubMedCentralPubMed
4.
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M: Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989, 342: 281-285. 10.1038/342281a0.PubMed
5.
Butler MG: High resolution chromosome analysis and fluorescence in situ hybridization in patient referred for Prader-Willi or Angelman syndrome. Am J Med Genet. 1995, 56 (4): 420-422. 10.1002/ajmg.1320560414.PubMed
6.
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T: Behavioral differences among subjects with Prader_Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics Mar. 2004, 113: 565-573.
7.
Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholl RD: Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am J Hum Genet. 1996, 58 (2): 335-346.PubMedCentralPubMed
8.
Chotai KA, Payne SJ: A rapid PCR based test for differential molecular diagnosis of Prader-Willi syndrome and Angelman syndromes. J Med Genet. 1998, 35 (6): 472-475. 10.1136/jmg.35.6.472.PubMedCentralPubMed
9.
Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ: Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet. 1993, 2 (9): 1377-1382. 10.1093/hmg/2.9.1377.PubMed
10.
Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B: Imprinting mutation suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet. 1994, 54 (5): 733-40.
11.
Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B: Inherited microdeletions in the Angelman and Prader-Will syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995, 9 (4): 395-400. 10.1038/ng0495-395.PubMed
12.
Procter M, Chou LS, Tang W, Jama M, Mao R: Molecular diagnosis of Prader-Willi and Angelman syndroems by methylation specific melting analysis and methylation-specfic multiplex ligation-dependent probe amplification. Clin Chem. 2006, 52 (7): 1276-1283. 10.1373/clinchem.2006.067603.PubMed
13.
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993, 91 (2): 398-402.PubMed
14.
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB: The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001, 108 (5): E92-10.1542/peds.108.5.e92.PubMed
15.
Goldstone AP, Holland AK, Hauffa BO, Hokken-Koelega AC, Tauber M: Recommendations for the Diagnosis and Management of Prader-Willi syndrome. J Clin Endocrinol Metabol. 2008, 93: 4183-97. 10.1210/jc.2008-0649.
16.
Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, gargantini L, Salvatoni A, Tonini G, Trifiro G, Livieri C: Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP), Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr. 2003, 162 (5): 327-333.PubMed
17.
Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M: Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab. 2006, 9 (3): 892-898.
18.
McCandless S: the Committee on Genetics, Health Supervision for Children With Prader-Willi Syndrome. Pediatrics. 2011, 127: 195-204.PubMed
19.
Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accachia S, Khan A: Final adult height I children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A. 2007, 143A (13): 1456-61. 10.1002/ajmg.a.31824.PubMed
20.
Eldar-Geva T, Hirsch HJ, Benarroch F, Rubinstein O, Gross-Tsur V: Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol. 2010, 162 (2): 377-84. 10.1530/EJE-09-0901.PubMed
21.
Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M: Hypothalamic and Gonadal Components of Hypogonadism in Boys with Prader-Labhart-Willi Syndrome. J Clin Endocrinol Metab. 2006, 91: 892-898.PubMed
22.
Akefeldt A, Tornhage CJ, Gillberg C: A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev Med Child Neurol. 1999, 41 (11): 789-790.PubMed
23.
Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K: Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr. 2001, 90 (4): 455-459.PubMed
24.
Grossman AB: The Diagnosis and Management of Central Hypoadrenalism. J Clin Endocrinol Metab. 2010, 95 (11): 4855-4863. 10.1210/jc.2010-0982.PubMed
25.
de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong Fh, Sweep FC, Hokken-Koelega AC: High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2008, 93 (5): 1649-1654. 10.1210/jc.2007-2294.PubMed
26.
Connell NA, Paterson WF, Wallace AM, Donaldson MD: Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. Clin Endocrinol (Oxf). 2010, 73 (5): 686-8. 10.1111/j.1365-2265.2010.03853.x.
27.
Nyunt O, Cotterill AM, Archbold SM, Wu JY, Leong GM, Verge CF, Crock PA, Amble GR, Hofman P, Harris M: Normal Cortisol Response on Low-dose synacthen (1 μg) test in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2010, 95 (12): E464-467E. 10.1210/jc.2010-0647.PubMed
28.
Farholt S, Sode-Carlsen R, Christiansen JS, Ostergaard JR, Hoybye C: Normal cortisol response to high dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. J Clin Endocrinol Metabol. 2011, 96 (1): E173-180. 10.1210/jc.2010-0782.
29.
Holm VA, Nuget JK: 1982 Growth in the Prader-Willi syndrome. Birth Defects Orig Artic Ser. 1982, 18 (3B): 93-100.PubMed
30.
Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE: The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore). 1983, 62 (2): 59-80.
31.
Butler MG, Meaney FJ: Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics. 1991, 88 (4): 853-860.PubMed
32.
Lee PDK: Endocrine and metabolic aspects of Prader-Willi Syndrome. Edited by: Greenswag LR, Alexander RC. 1995, Management of Prader-Willi syndrome, second edition, Springer-Verlag, New York, 32-60.
33.
Carrel AL, Myers SE, Whitman BY, Allen DB: Benefits of long term GH therapy in Prader-Willi syndrome: A four year study. J Clin Endocrinol Metab. 2002, 87 (4): 1581-5. 10.1210/jc.87.4.1581.PubMed
34.
Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH: Effects of Growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition and resting energy expenditure in Prader-Willi syndrome. J Clin Endocrinol Metab. 2003, 88 (5): 2206-12. 10.1210/jc.2002-021536.PubMed
35.
Festen DA, Wevers M, Lindgren AC, Bohm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Mental and motor development before and after growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008, 68 (6): 919-25. 10.1111/j.1365-2265.2007.03126.x.
36.
Festen DA, Wevers M, Lindgren AC, Bohm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008, 68: 991-925.
37.
Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen Db: Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A. 2007, 143 (5): 443-8.
38.
Carrel AL, Moerchen V, Myers SE, Bekx MT, Whitman BY, Allen DB: Growth hormone improves mobility and body composition in infants and toddlers with Prader-Willi syndrome. J Pediatr. 2004, 145 (6): 744-749. 10.1016/j.jpeds.2004.08.002.PubMed
39.
Lindgren AC, Lindberg A: Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: Experience from KIGS (Pfizer International Growth Database). Horm Res. 2008, 70 (3): 182-7. 10.1159/000145019.PubMed
40.
Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, Cahan M, Pinyerd B, Southren AL: Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. J Clin Endocrinol Metab. 2008, 93 (4): 1238-45. 10.1210/jc.2007-2212.PubMed
41.
Hoybye C: Five year Growth Hormone treatment in adults with Prader-Willi syndrome. Acta Pediatr. 2007, 96 (3): 410-3. 10.1111/j.1651-2227.2006.00051.x.
42.
Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Höybye C: One year Growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo controlled study. J Clin Endocrinol Metab. 2010, 95 (11): 4943-4950. 10.1210/jc.2010-0907.PubMed
43.
Akefeldt A, Gillberg C: Behavior and personality characteristics of children and young adults with Prader-Willi syndrome: a controlled study. J Am Acad Child and Adoles Psychiatry. 1999, 38 (6): 761-769. 10.1097/00004583-199906000-00025.
44.
Gondoni LA, Vismara L, Marzullo P, Vettor R, Liuzzi A, Grugni G: Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome. J Endocrinol Invest. 2008, 31 (9): 765-72.PubMed
45.
Bertella L, Mori I, Grugni G, Pignatti R, Ceriani F, Molinari E, Ceccarelli A, Sartorio A, Vettor R, Semenza C: Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Intellect Disabil Res. 2007, 51 (Pt 4): 302-11.PubMed
46.
Marzullo P, Marcassa C, Campini R, Eleuteri E, Minocci A, Sartorio A, Vettor R, ALiuzzi A, Grugni G: Conditional Cardiovascular Response to Growth Hormone Therapy in Adult Patients with Prader-Willi Syndrome. J Clin Endocrinol Metab. 2007, 92: 1364-1371. 10.1210/jc.2006-0600.PubMed
47.
Einfeld SL, Smith A, Durvasula S, Florio T, Tonge BJ: Behavior and emotional disturbances in Prader-Willi syndrome. Am J Med Genet. 1999, 82 (2): 123-7. 10.1002/(SICI)1096-8628(19990115)82:2<123::AID-AJMG4>3.0.CO;2-C.PubMed
48.
Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF: Prader-Willi syndrome: intellectual abilities and behavioral features by genetic subtype. J Child Psychol Psychiatry. 2005, 46 (10): 1089-1096. 10.1111/j.1469-7610.2005.01520.x.PubMed
49.
Grugni G, Crino A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifirò G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iannì F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G, Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED): The Italian National Survey for Prader-Willi syndrome: An Epidemiologic Study. Am J Med Genet A. 2008, 146 (7): 861-872.
50.
Cassidy SB, Driscoll DJ: Prader-Willi syndrome. Eur J of Hum Genet. 2009, 17 (1): 3-13. 10.1038/ejhg.2008.165.
51.
Gross-Tsur V, Landau YE, Benarroch F, Wertman-Elad R, Shalev R: Cognition, attention and behavior in Prader-Willi syndrome. J Child Neurol. 2001, 16 (4): 288-290. 10.1177/088307380101600411.PubMed
52.
Descheemaeker M, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP: Prader-Willi Syndrome: new insights in the behavioral and psychiatric spectrum. J Intellect Disabil Res. 2002, 46 (Pt 1): 41-50.PubMed
53.
Whittington JE, Holland A, Webb T, Butler J, Clarke D, Boer H: Cognitive abilities and genotype in a population based sample of people with Prader-Willi syndrome. J Intellect Disabil Res. 2004, 48 (Pt 2): 172-187.PubMed
54.
Copet P, Jauregi J, Laurier V, Ehlinger V, Arnaud C, Cobo AM, Molinas C, Taber M, Thuilleaux D: Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes. J Intellect Disabil Res. 2010, 54 (3): 204-215. 10.1111/j.1365-2788.2010.01251.x.PubMed
55.
Roof E, Stone W, MacLean W, Feuer ID, Thompson T, Butler MG: Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000, 44 (Pt 1): 25-30.PubMed
56.
Curfs LM, Fryns JP: Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile. Birth Defects Orig Artic Ser. 1992, 28 (1): 99-104.PubMed
57.
Dykens EM, Cassidy SB, King BH: Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus uniparental disomy. Am J Ment Retard. 1999, 104 (1): 67-77. 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2.PubMed
58.
Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, Ozuna B, Leske V, Caino S, Fano V, Chertkoff L: An interdisciplinary Study. Clinical-etiologic correlation in children with Prader-Willi syndrome(PWS). Am J Med Genet A. 2007, 143 (5): 460-468.
59.
Dykens EM, Hodapp RM, Walsh K, Nash J: Adaptive and maladaptive behavior in Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. 1992, 31 (6): 1131-1136. 10.1097/00004583-199211000-00023.PubMed
60.
Holland AJ, Treasure J, Coskeran P, Dallow J, Milton N, Hillhouse E: Measurement of excessive appetite and metabolic changes in Prader-Willi syndrome. Int J Obes Relat Metab Disord. 1993, 17 (9): 527-532.PubMed
61.
Goldstone A: Prader-Willi syndrome Advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab. 2004, 15 (1): 12-20. 10.1016/j.tem.2003.11.003.PubMed
62.
Benarroch F, Hirsch HJ, Genstil L, Landau YE, Gross-Tsur V: Prader-Willi syndrome: Medical prevention and behavioral challenges. Child Adolesc Psychiatr Clin N Am. 2007, 16 (3): 695-708. 10.1016/j.chc.2007.03.007.PubMed
63.
Whitman B, Jackson K: Tools for Psychological and Behavioral Mangement. Management of Prader-Willi syndrome. Edited by: Butler MG, Lee PDK and Whitman B. 2006, NY: Springer Publishing, 324: 3
64.
Holland AJ, Whittington JE, Butler J, Webb T, Boer H, Clarke D: Behavioral phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychol Med. 2003, 33 (1): 141-153.PubMed
65.
Reddy LA, Pfeiffer S: Behavior and emotional symptoms of children and adolescents with Prader-Willi syndrome. J Autism Dev Disord. 2007, 37 (5): 830-839. 10.1007/s10803-006-0210-2.PubMed
66.
Dimitropoulos A, Feurer ID, Butler MG, Thompson T: Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Am J Ment Retard. 2001, 106 (1): 39-51. 10.1352/0895-8017(2001)106<0039:EOCBAT>2.0.CO;2.PubMed
67.
Kim JW, Yoo HJ, Cho SC, Hong K, Kim BN: Behavioral Characteristics of Prader-Willi syndrome in Korea: Comparison with children with mental retardation and normal controls. J Child Neurol. 2005, 20 (2): 134-138. 10.1177/08830738050200021001.PubMed
68.
Koenig K, Klin A, Schultz R: Deficits in social attribution ability in Prader-Willi syndrome. J Autism Dev Disord. 2004, 34 (5): 573-582. 10.1007/s10803-004-2551-z.PubMed
69.
Whittington J, Holland T: Recognition of emotion in facial expression by people with Prader-Willi syndrome. J Intellect Disabil Res. 2011, 54 (1): 75-85.
70.
Dykens EM, Roof E: Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J Child Psychol Psychiatry. 2008, 49 (9): 1001-8. 10.1111/j.1469-7610.2008.01913.x.PubMed
71.
Hartley SL, Maclean WE, Butler MG, Zarcone J, Thompson T: Maladaptive behaviors and risk factors among genetic subtypes of Prader-Willi syndrome. Am J Med Genet. 2005, 136 (2): 140-145.PubMedCentralPubMed
72.
Arron K, Oliver C, Moss J, Berg K: Burbidge. The prevalence and phenomenology of self injurious and aggressive behavior in genetic syndromes. J Intellect Disabil Res. 2011, 55 (2): 109-120. 10.1111/j.1365-2788.2010.01337.x.PubMed
73.
Morgan JR, Storch EA, Woods DA, Bodzin D, Lewin AB, Murphy TK: A Preliminary Analysis of the phenomenology of skin picking in Prader-Willi syndrome. Child Psychiatry Hum Dev. 2010, 41 (4): 448-463. 10.1007/s10578-010-0180-7.PubMed
74.
Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM: Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. Am J Med Genet A. 2009, 149A (7): 1581-1584. 10.1002/ajmg.a.32934.PubMed
75.
Cassidy SB, Devi A, Mukaida C: Aging in Prader-Willi syndrome: 22 patients over age 30 years. Proc Greenwood Genet Cent. 1994, 13: 102-103.
76.
Vogels A, De Hert M, Descheemaeker MJ, Govers V, Devriendt K, Legius E, Prinzie P, Fryns JP: Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A. 2004, 127A (3): 238-243. 10.1002/ajmg.a.30004.PubMed
77.
Mantoulan C, Payoux P, Diene G, Glattard M, Roge B, Molinas C, Sevely A, Zilbovicius M, Celsis P, Tauber M: PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances. J Cereb Blood Flow Metab. 2011, 31 (1): 275-82. 10.1038/jcbfm.2010.87.PubMedCentralPubMed
78.
Shapira NA, Lessing MC, He AG, James GA, Driscoll DJ, Liu Y: Satiety dysfunction in Prader-Willi syndrome demonstrated by f MRI. J Neurol Neurosurg Psychiatry. 2005, 76 (2): 260-262. 10.1136/jnnp.2004.039024.PubMedCentralPubMed
79.
Holsen LM, Zarcone JR, Chambers R, Butler MG, Bittel DC, Brooks WM, Thompson T, Savage CR: Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int J Obes (Lond). 2009, 33 (2): 273-283. 10.1038/ijo.2008.255.
80.
Miller JL, James GA, Goldstone AP, Couch J, He G, Driscoll DJ, Liu Y: Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J Neurol Neurosurg Psychiatry. 2007, 78 (6): 615-619. 10.1136/jnnp.2006.099044.PubMedCentralPubMed
81.
Arens R, Gozal D, Omlin KJ, Livingston FR, Liu J, Keens TG, Ward SL: Hypoxic and hypercapneic ventilatory responses in Prader-Willi syndrome. J Appl Physiol. 1994, 77 (5): 2224-30.PubMed
82.
Arens R, Gozal D, Burrell BC, Bailey SL, Bautista DB, Keens TJ, Ward Sl: Arousal and cardiorespiratory responses to hypoxemia in Prader-Willi syndrome. Am J Respir Crit Care Med. 1996, 153 (1): 283-7.PubMed
83.
Livingston FR, Arens R, Bailey SL, Keen TG, Ward SL: Hypercapnic arousal responses in Prader-Willi syndrome. Chest. 1995, 108 (6): 1627-31. 10.1378/chest.108.6.1627.PubMed
84.
Menendez AA: Abnormal ventilatory responses in patients with Prader-Willi syndrome. Eur J Pediatr. 1999, 158 (11): 941-2. 10.1007/s004310051247.PubMed
85.
Festen DA, Wevers M, DeWeerd AW, VandenBossche RA, Duivenvorden HJ, Otten BJ, Wit JM, Hokken-Koelega AC: Psychomotor development in infants with Prader-Willi syndrome and association with sleep related breathing disorders. Pediatr Res. 2007, 62: 221-224. 10.1203/PDR.0b013e31809871dd.PubMed
86.
Cataletto M, Hertz G, Angulo M: Sleep in Infants with Prader-Willi syndrome: analysis of sleep patterns and early identification of sleep disordered breathing. Rom J Rare Dis. 2010, 1 (1):
87.
Miller J: Sleep Disordered breathing in Infants with Prader-Willi syndrome during the first 6 weeks of Growth hormone therapy: A pilot study. J Clin Sleep Med. 2009, 5 (5):
88.
Clarke DJ, Water J, Corbett JA: Adults with Prader-Willi syndrome: abnormalities of sleep and behaviours. JR Soc Med. 1989, 82 (1): 21-4.
89.
Richdale AL, Cotton S, Hibbit K: sleep and behavior disturbance in Prader-Willi syndrome: a questionnaire study. J Intellect Disabil Res. 1999, 43 (Pt 5): 380-92.PubMed
90.
Hertz G, Cataletto M, Feinsilver S, Angulo M: REM sleep abnormalities in Prader-Willi syndrome: A genetic link. Neurology. 1993, 43 (4): 56-
91.
Hertz G, Cataletto M, Feinsilver S, Angulo M: Sleep and breathing patterns in patients with Prader-Willi syndrome (PWS): effect of age and gender Sleep. 1993, 16: 366-71.
92.
Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, Vela Bueno A: Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hyperarousal. Int J Neurosci. 1996, 87 (3): 127-39. 10.3109/00207459609070832.PubMed
93.
Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno AV, Rogan PK: Relationship of sleep abnormalities to patient genotype in Prader-Willi syndrome. Am J Med Genet. 1996, 67 (5): 478-83. 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G.PubMed
94.
Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM: Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. J Intellect Disabil Res. 2010, 54 (10): 906-17. 10.1111/j.1365-2788.2010.01306.x.PubMed
95.
Helbing-Zwanenberg B, Kamphuisen HA, Mourtazaev MS: The origin of excessive daytime sleepiness in the Prader-Willi syndrome. J Intellect Disabil Res. 1993, 37: 533-41.
96.
Manni R, Politini L, Nobili L, Ferrillo F, Liveri C, Veneselli E, Bianchieri R, Martinetti M, Tartara A: Hypersomnia in the Prader-Willi syndrome: clinical-electrophysiological features and underlying factors. Clin Neurophysiol. 2001, 112 (5): 800-805. 10.1016/S1388-2457(01)00483-7.PubMed
97.
Hertz G, Cataletto M, Feinsilver S: Angulo, Developmental Trends in Sleep and breathing patterns in patients with Prader-Willi syndrome. Am J Med Genet. 1995, 56: 188-190. 10.1002/ajmg.1320560215.PubMed
98.
Caffermann D, McEvoy ED, O'Donoghue F, Lushington K: Prader-Willi syndrome and Excessive Daytime Sleepiness. Sleep Med Rev. 2008, 12 (1): 65-75. 10.1016/j.smrv.2007.08.005.
99.
Nevsimalova S, Vankova J, Stepanova I, Seemanova E, Mignot E, Nishino S: Hypocretin deficiency in Prader-Willi syndrome. Eur J Neuro. 2005, 12 (1): 70-72. 10.1111/j.1468-1331.2004.00969.x.
100.
Fronczek R, Lammers GJ, Balesar R, Unmehopa UA, Swaab DF: The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab. 2005, 90 (9): 5466-70. 10.1210/jc.2005-0296.PubMed
101.
Hertz G, McGrath A, Cataletto M: excessive daytime sleepiness in Prader-Willi syndrome: behavioral and cognitive measures. Sleep. 1999, 22 (Suppl 1): 319-
102.
Tauber M, Diene G, Molinas C, Hebert M: Review of 64 cases of death in children with Prader-Willi syndrome(PWS). Am J Med Genet A. 2008, 146 (7): 881-7.
103.
Schoeller DA, Levetsky LI, Bandini LG, Dietz WW, Walcak A: Energy expenditure and body composition in Prader-Willi syndrome. Metabolism. 1988, 37: 115-120. 10.1016/S0026-0495(98)90003-8.PubMed
104.
Butler MG, Theodore MF, Bittel DC, Donnelly JE: Energy Expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. AM J Med Genet. 2007, 143: 449-59.
105.
Lindemark M, Trygg K, Giltvedt K, Kolset S: Nutrient intake of young children with Prader-Willi syndrome. Food and Nutrition Research. 2010, 54: 2112-
106.
de Lind van Wijngaarden RF, de Klerk LW, Festen DA: Hokken-Koelega AC 2008 Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. Arch Dis Child. 93: 1012-1016.
107.
Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N: Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet A. 2006, 140: 1623-1627.PubMed
108.
Odent T, Accadbled F, Koureas G, Cournot M, Moine A, Diene G, Molinas C, Pinto G, Tauber M, Gomes B, de Gauzy JS, Glorion C: Scoliosis in patients with Prader-Willi syndrome. Pediatrics. 2008, 122: 499-503. 10.1542/peds.2007-3487.
109.
Greggi T, Martikos K, Lolli F, Bakaloudia G, DiSilvestre M, Cioni A, Barbanti Brodaom G, Nagai T, Obata K, Ogata T: Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet. 2006, 140: 1623-27.
110.
Odent T, Accadbled F, Koureas G, Cournot M, Moine A, Diene G, Molinas C, Pinto G, Tauber M, Gomes B, de Gauzy JS, Glorion C: Scoliosis in patients with Prader-Willi syndrome. Pediatr. 2008, 122: e 499-503.
111.
Shim JS, Lee SH, Seo SW, Koo KH, Jin DK: The Musculoskeletal manifestations of Prader-Willi syndrome. J Pediatr Orthop. 2010, 30 (4): 390-395. 10.1097/BPO.0b013e3181da857d.PubMed
112.
Vismara L, Romei M, Galli M, Montesano A, Baccalaro G: Clinical implications of gait analysis in the rehabilitation of adult patients with Prader-Willi syndrome: a cross sectional comparative study. J Neuroeng Rehabil. 2007, 4: 14-10.1186/1743-0003-4-14.PubMedCentralPubMed
113.
Cimolin V, Galli M, Grugni G, Vismara L, Albertini G, Rigoldi C, Capodaglio P: Gait patterns in Prader-Willi and Down syndrome patients. J Neuroeng Rehabil. 2010, 7: 28-10.1186/1743-0003-7-28.PubMedCentralPubMed
114.
Einfeld SL, Kavanaugh SJ, Smith A, Evans EJ, Tonge BJ, Taffe J: Mortality in Prader-Willi syndrome. Am J Ment Retard. 2006, 111 (3): 193-8. 10.1352/0895-8017(2006)111[193:MIPS]2.0.CO;2.PubMedCentralPubMed
Metadata
Title
Prader-Willi syndrome: A primer for clinicians
Authors
Mary Cataletto
Moris Angulo
Gila Hertz
Barbara Whitman
Publication date
01-12-2011
Publisher
BioMed Central
Published in
International Journal of Pediatric Endocrinology / Issue 1/2011
Electronic ISSN: 1687-9856
DOI
https://doi.org/10.1186/1687-9856-2011-12

Other articles of this Issue 1/2011

International Journal of Pediatric Endocrinology 1/2011 Go to the issue

Research

Prevention of Vitamin D deficiency in infancy: daily 400 IU vitamin D is sufficient

Research

Efficacy of Leuprolide Acetate 1-Month Depot for Central Precocious Puberty (CPP): Growth Outcomes During a Prospective, Longitudinal Study

Case report

Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female

Case Report

Unmasking of Partial Diabetes Insipidus during Stress but Not Maintenance Dosing of Glucocorticoids in an Infant with Septo-Optic Dysplasia

Research

Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development

Research

Children with disorders of sex development: A qualitative study of early parental experience